Results 91 to 100 of about 32,144 (200)

A Novel SCNN1B Mutation in a Neonate With Systemic Pseudohypoaldosteronism Type 1: Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Early recognition of PHA1B in neonates with persistent hyperkalemia and hyponatremia is important for timely intervention. Genetic testing confirms the diagnosis, guiding long‐term management. This case highlights a novel SCNN1B mutation, expanding the genetic spectrum and emphasizing the need for lifelong monitoring to prevent life ...
Ensiyeh Bahadoran, Fatemeh Saffari, Sahar Moghbelinejad   +2 more
wiley   +1 more source

Congenital Adrenal Hyperplasia in Adults [PDF]

, 2010
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting adrenal steroid synthesis. More than 95% of CAH cases are caused by reduced 21-hydroxylase function leading to variable extent of cortisol and aldosterone deficiency in ...
Falhammar, Henrik
core   +1 more source

Case Report: Compound Heterozygous SCNN1B Mutations Causing Pseudohypoaldosteronism Type 1B2 in Neonatal Twins

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
First Chinese neonatal cases of systemic PHA1B from novel compound‐heterozygous SCNN1B variants (c.585+2T>C; c.1544T>C) presented with life‐threatening hyperkalemia and hyponatremia unresponsive to steroids. Early genetic testing enabled targeted sodium supplementation and potassium‐binding therapy, normalizing electrolytes and underscoring SCNN1B ...
Zhiping Wang, Lijuan Long, Hongjuan Bi
wiley   +1 more source

Adrenal crises: perspectives and research directions [PDF]

, 2017
Adrenal crises (AC) are life-threatening complications of adrenal insufficiency (AI). These events have an estimated incidence of between 5 and 10 ACs/100 patient years (PY) and are responsible for some of the increased morbidity and excess mortality ...
Falhammar, H, Rushworth, R, Torpy, D
core   +2 more sources

Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia : epidemiological studies in a nonbiased national cohort in Sweden [PDF]

, 2014
Context: Congenital adrenal hyperplasia (CAH), CYP21A2 deficiency, results in cortisol and aldosterone deficiency and increased production of androgens, with a good genotype phenotype correlation.
Falhammar, Henrik, Frisén, Louise, Hirschberg, Angelica, Lichtenstein, Paul, Nordenskjöld, Agneta, Nordenström, Anna, Norrby, Christina, Strandqvist, Anna, Wedell, Anna   +8 more
core   +1 more source

Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report

Journal of Medical Case Reports, 2013
Introduction We report the case of a patient with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency who presented with unusual anatomical and biochemical features, namely massively enlarged adrenal glands, adrenogenital rest ...
Ferreira Florbela, Martins João Martin, do Vale Sónia, Esteves Rui, Nunes Garção, Carmo Isabel do   +5 more
doaj   +1 more source

Cortisol and 17-hydroxyprogesterone levels in saliva of healthy neonates - Normative data and relation to body mass index, arterial cord blood pH and time of sampling after birth [PDF]

, 2000
The measurement of cortisol and 17-hydroxyprogesterone (17-OHP) in saliva has become a reliable tool for both the scientist and the clinician for studying adrenal cortical function in the adult and the older child.
Dressendörfer, Regina, Kiess, Wieland, Klug, Ingo, Kratzsch, Jürgen, Kühl, Gonne Peter, Meyer, Kerstin, Müller, Grit, Reich, Andrea, Reiter, Hans-Ludwig, Strasburger, Christian   +9 more
core   +1 more source

Massive adrenal incidentalomas and late diagnosis of congenital adrenal hyperplasia in prostate cancer

Endocrinology, Diabetes & Metabolism Case Reports, 2017
In a 61-year-old Caucasian male with prostate cancer, leuprolide and bicalutamide failed to suppress the androgens. He presented to endocrinology with persistently normal testosterone and incidental massive (up to 18 cm) bilateral adrenal myelolipomas ...
Xin Feng, Gregory Kline
doaj   +1 more source

Hormonal circadian rhythms in patients with congenital adrenal hyperplasia: identifying optimal monitoring times and novel disease biomarkers [PDF]

, 2015
Objectives: The treatment goal in congenital adrenal hyperplasia (CAH) is to replace glucocorticoids while avoiding androgen excess and iatrogenic Cushing's syndrome. However, there is no consensus on how to monitor disease control.
Backlund, P.S., Crutchfield, C.A., Debono, M., Gounden, V., Harrison, R.F., Mallappa, A., Merke, D.P., Nella, A.A., Ross, R.J., Soldin, S.J.   +9 more
core   +1 more source

A Neonate Presenting with Severe Dehydration - A Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis

Journal of Nepal Medical Association
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ.
Anita Lamichhane, Rekha Phuyel, Manish Upreti, Ramesh Khadka   +3 more
doaj   +1 more source